Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001130963.2

p.Y323D

c.967T>G

Surrounding Variants

NM_001130963.2

p.L286P

c.857T>C

NM_001130963.2

p.V257D

c.770T>A

NM_001130963.2

p.Q248*

c.742C>T

NM_001130963.2

p.C245F

c.734G>T

NM_001130963.2

p.I217V

c.649A>G

NM_001130963.2

p.E352G

c.1055A>G

NM_001130963.2

p.E352delins

c.1055_1056delinsGT

NM_001130963.2

p.R356*

c.1066C>T

NM_001130963.2

p.C176fs

c.526_527fs

NM_001130963.2

p.C176fs

c.526_527fs

NM_001130963.2

p.R157Q

c.470G>A

NM_001130963.2

p.E99K

c.295G>A